rs201283129
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201283129(A;A) |
| Make rs201283129(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 17838329 |
| Gene | JAK3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201283129 |
| dbSNP (classic) | rs201283129 |
| ClinGen | rs201283129 |
| ebi | rs201283129 |
| HLI | rs201283129 |
| Exac | rs201283129 |
| Gnomad | rs201283129 |
| Varsome | rs201283129 |
| LitVar | rs201283129 |
| Map | rs201283129 |
| PheGenI | rs201283129 |
| Biobank | rs201283129 |
| 1000 genomes | rs201283129 |
| hgdp | rs201283129 |
| ensembl | rs201283129 |
| geneview | rs201283129 |
| scholar | rs201283129 |
| rs201283129 | |
| pharmgkb | rs201283129 |
| gwascentral | rs201283129 |
| openSNP | rs201283129 |
| 23andMe | rs201283129 |
| SNPshot | rs201283129 |
| SNPdbe | rs201283129 |
| MSV3d | rs201283129 |
| GWAS Ctlg | rs201283129 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201283129(A;A) rs201283129(G;G) |
| Alt | rs201283129(A;A) rs201283129(G;G) |
| Reference | Rs201283129(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Leukemoid Reaction Acute megakaryoblastic leukemia |
| Variation | info |
| Gene | JAK3 |
| CLNDBN | Leukemoid Reaction Acute megakaryoblastic leukemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.17949138C>A; NC_000019.9:g.17949138C>G |
| CLNSRC | |
| CLNACC | RCV000419033.1, RCV000436281.1, RCV000428873.1, |
